title: Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
abstract: Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently reported to cause recessive forms of distal arthrogryposis. This report expands on the molecular basis and the phenotypic spectrum of ECEL1-associated congenital contracture syndromes.
authors.affiliation: Department of Neurology; F.B. Kirby Neurobiology Center; Program in Genomics; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Dubai Harvard Foundation for Medical Research, Boston, MA, USA.
authors.forename: S
authors.initials: S
authors.lastname: Shaaban
authors.forename: F
authors.initials: F
authors.lastname: Duzcan
authors.forename: C
authors.initials: C
authors.lastname: Yildirim
authors.forename: W-M
authors.initials: WM
authors.lastname: Chan
authors.forename: C
authors.initials: C
authors.lastname: Andrews
authors.forename: N A
authors.initials: NA
authors.lastname: Akarsu
authors.forename: E C
authors.initials: EC
authors.lastname: Engle
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D059472:Exome; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: C492359:ECEL1 protein, human; D008666:Metalloendopeptidases
keywords: arthrogryposis; camptodactyly; contractures; ophthalmoplegia